USH2A

Also known as RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin

Usherin is a protein that in humans is encoded by the USH2A gene.

Gene data

USH2A

Name: usherin
Type: protein-coding
Position: 215,622,891–216,423,448 (−)
Aliases: RP39, US2, USH2, dJ1111A8.1
Ensembl: ENSG00000042781
RefSeq RNA: NM_007123.6, NM_206933.4
RefSeq protein: NP_009054.6, NP_996816.3

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].

via MyGene.info

Gene · Ensembl

usherin

Symbol: USH2A
Biotype: Protein coding
Organism: Homo sapiens
Location: 1:215,621,576-216,423,448
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 66151
exact match: identifiers.org/ncbigene/7399
cytogenetic location: 1q41
genomic end: 216423448
genomic start: 215622891

Sources (3)

via Wikidata · CC0

~1 min read

Article

3 sections

Contents

References
Further reading
External links

Usherin is a protein that in humans is encoded by the USH2A gene.

This gene encodes the protein Usherin that contains laminin EGF motifs, a pentraxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa. Alternatively spliced transcript variants that encode different isoforms have been described.